Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0022568 (keratitis)
 5,133 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Autosomal recessive congenital ichthyosis (ARCI4B [OMIM #242500]), also known as harlequin ichthyosis, presents at birth with extreme hyperkeratosis and thick-fissured plaques, leading to tightness of the skin around the eyes, mouth, ears, chest, abdomen, and extremities. Ocular manifestations include cicatricial ectropion and exposure keratitis. We present 2 infants with ARCI4B and cicatricial ectropion who were managed with aggressive nonsurgical therapy. Both infants avoided severe ocular sequelae and maintained corneal clarity, highlighting that management of exposure keratopathy with frequent ophthalmic ointment application can prevent severe ocular surface pathology in ARCI4B.
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PMID:Management of ocular manifestations of autosomal recessive congenital ichthyosis 4B, harlequin type, in the perinatal period. 3158 85